Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss O Diaz-Horta, D Duman, J Foster, A Sırmacı, M Gonzalez, N Mahdieh, ... PloS one 7 (11), e50628, 2012 | 172 | 2012 |
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort G Bademci, J Foster, N Mahdieh, M Bonyadi, D Duman, FB Cengiz, ... Genetics in Medicine 18 (4), 364-371, 2016 | 159 | 2016 |
DNASE1L3 Mutations in Hypocomplementemic Urticarial Vasculitis Syndrome ZB Özçakar, J Foster, O Diaz‐Horta, O Kasapcopur, YS Fan, F Yalçınkaya, ... Arthritis & Rheumatism 65 (8), 2183-2189, 2013 | 149 | 2013 |
Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss KO Yariz, D Duman, CZ Seco, J Dallman, M Huang, TA Peters, A Sirmaci, ... The American Journal of Human Genetics 91 (5), 872-882, 2012 | 127 | 2012 |
De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis W Thorson, O Diaz-Horta, J Foster, M Spiliopoulos, R Quintero, A Farooq, ... Human genetics 133, 737-742, 2014 | 106 | 2014 |
FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing O Diaz-Horta, A Subasioglu-Uzak, M Grati, A DeSmidt, J Foster, L Cao, ... Proceedings of the National Academy of Sciences 111 (27), 9864-9868, 2014 | 78 | 2014 |
Occurrence of enterovirus RNA in serum of children with newly diagnosed type 1 diabetes and islet cell autoantibody-positive subjects in a population with a low incidence of … L Sarmiento, E Cabrera-Rode, L Lekuleni, I Cuba, G Molina, M Fonseca, ... Autoimmunity 40 (7), 540-545, 2007 | 76 | 2007 |
Type 1 diabetes islet associated antibodies in subjects infected by echovirus 16 E Cabrera-Rode, L Sarmiento, C Tiberti, G Molina, J Barrios, ... Diabetologia 46, 1348-1353, 2003 | 76 | 2003 |
Whole-exome sequencing and its impact in hereditary hearing loss T Atik, G Bademci, O Diaz-Horta, SH Blanton, M Tekin Genetics research 97, e4, 2015 | 75 | 2015 |
SLITRK6 mutations cause myopia and deafness in humans and mice M Tekin, BA Chioza, Y Matsumoto, O Diaz-Horta, HE Cross, D Duman, ... The Journal of clinical investigation 123 (5), 2094-2102, 2013 | 66 | 2013 |
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome K Walz, D Cohen, PM Neilsen, J Foster, F Brancati, K Demir, R Fisher, ... Human genetics 134, 181-190, 2015 | 63 | 2015 |
Na/Ca exchanger overexpression induces endoplasmic reticulum–related apoptosis and caspase-12 activation in insulin-releasing BRIN-BD11 cells O Diaz-Horta, A Kamagate, A Herchuelz, F Van Eylen Diabetes 51 (6), 1815-1824, 2002 | 55 | 2002 |
ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice O Diaz-Horta, C Abad, L Sennaroglu, J Foster, A DeSmidt, G Bademci, ... Proceedings of the National Academy of Sciences 113 (21), 5993-5998, 2016 | 50 | 2016 |
Variations in multiple syndromic deafness genes mimic non-syndromic hearing loss G Bademci, FB Cengiz, J Foster Ii, D Duman, L Sennaroglu, O Diaz-Horta, ... Scientific reports 6 (1), 31622, 2016 | 46 | 2016 |
Admixture estimates for the population of Havana City A Cintado, O Companioni, M Nazabal, H Camacho, A Ferrer, ... Annals of Human Biology 36 (3), 350-360, 2009 | 44 | 2009 |
Islet cell related antibodies and type 1 diabetes associated with echovirus 30 epidemic: a case report E Cabrera‐Rode, L Sarmiento, G Molina, C Pérez, C Arranz, JA Galvan, ... Journal of medical virology 76 (3), 373-377, 2005 | 44 | 2005 |
Slowly progressing type 1 diabetes: persistence of islet cell autoantibodies is related to glibenclamide treatment E Cabrera-Rode, P Perich, O Diaz-Horta, C Tiberti, G Molina, C Arranz, ... Autoimmunity 35 (7), 469-474, 2002 | 44 | 2002 |
Aspectos epidemiológicos de la prediabetes, diagnóstico y clasificación O Díaz Díaz, E Cabrera Rode, N Orlandi González, MJ Araña Rosaínz, ... Revista Cubana de Endocrinología 22 (1), 3-10, 2011 | 41 | 2011 |
Effect of standard nicotinamide in the prevention of type 1 diabetes in first degree relatives of persons with type 1 diabetes E Cabrera-Rode, G Molina, C Arranz, M Vera, P González, R Suárez, ... Autoimmunity 39 (4), 333-340, 2006 | 38 | 2006 |
Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss G Bademci, O Diaz-Horta, S Guo, D Duman, D Van Booven, J Foster II, ... Genetic testing and molecular biomarkers 18 (9), 658-661, 2014 | 37 | 2014 |